中风及发病机制：已知信息？
Stroke and Etiopathogenesis: What Is Known?
机构信息
Internal Medicine Department, Hospital of Marcianise, ASL Caserta, 81031 Caserta, Italy.
Emergency Department, Hospital of Latina, ASL Latina, 04100 Latina, Italy.
出版信息
Genes (Basel). 2022 May 30;13(6):978. doi: 10.3390/genes13060978.
BACKGROUND
A substantial portion of stroke risk remains unexplained, and a contribution from genetic factors is supported by recent findings. In most cases, genetic risk factors contribute to stroke risk as part of a multifactorial predisposition. A major challenge in identifying the genetic determinants of stroke is fully understanding the complexity of the phenotype.
AIMS
Our narrative review is needed to improve our understanding of the biological pathways underlying the disease and, through this understanding, to accelerate the identification of new drug targets.
METHODS
We report, the research in the literature until February 2022 in this narrative review. The keywords are stroke, causes, etiopathogenesis, genetic, epigenetic, ischemic stroke.
RESULTS
While better risk prediction also remains a long-term goal, its implementation is still complex given the small effect-size of genetic risk variants. Some authors encourage the use of stroke genetic panels for stroke risk assessment and further stroke research. In addition, new biomarkers for the genetic causes of stroke and new targets for gene therapy are on the horizon.
CONCLUSION
We summarize the latest evidence and perspectives of ischemic stroke genetics that may be of interest to the physician and useful for day-to-day clinical work in terms of both prevention and treatment of ischemic stroke.
背景
大量的中风风险仍然无法解释，最近的发现支持遗传因素对此有一定的贡献。在大多数情况下，遗传风险因素作为多因素易感性的一部分，增加了中风的风险。确定中风遗传决定因素的主要挑战是充分了解疾病的表型复杂性。
目的
我们需要进行叙述性综述，以加深对疾病相关生物学途径的理解，并通过这种理解，加速确定新的药物靶点。
方法
我们在这篇叙述性综述中报告了截至 2022 年 2 月的文献中的研究。关键词是中风、病因、发病机制、遗传、表观遗传、缺血性中风。
结果
虽然更好的风险预测仍然是一个长期目标，但由于遗传风险变异的效应大小较小，其实施仍然很复杂。一些作者鼓励使用中风基因谱进行中风风险评估和进一步的中风研究。此外，新的中风遗传原因的生物标志物和基因治疗的新靶点也即将出现。
结论
我们总结了缺血性中风遗传学的最新证据和观点，这些观点可能对医生有兴趣，并有助于预防和治疗缺血性中风的日常临床工作。
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